UBE3B

Chr 12q24.11

ubiquitin protein ligase E3B

MANE:: ENST00000342494.8

OMIM: 608047 ↗NCBI: 89910 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UBE3B · Q7Z3V4

v62025-08-01

Predicted Aligned Error matrix for UBE3B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.7/ 100

Confident

1,068 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)33%
Low(50–70)4%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Clefting
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

oculocerebrofacial syndrome, Kaufman type
0.80
hereditary disease
0.49
angina pectoris
0.39
Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency
0.37
blepharophimosis - intellectual disability syndrome
0.34
alcohol drinking
0.31
cataract
0.30
cardiac arrhythmia
0.25
presbycusis
0.24
coronary artery disorder
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquitin-protein ligase E3B

E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Ubiquitinates BCKDK and targets it for degradation, thereby regulating various metabolic processes (By similarity). Involved in the positive regulation of neurite branching in hippocampal neurons and the control of neuronal spine number and morphology, through the ubiquitination of PPP3CC (By similarity)